Deletion of the SIM1 gene (6q16.2) in a patient with a Prader-Willi-like phenotype

J Med Genet. 2002 Aug;39(8):594-6. doi: 10.1136/jmg.39.8.594.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Adult
  • Basic Helix-Loop-Helix Transcription Factors
  • Child, Preschool
  • Chromosome Mapping
  • Chromosomes, Human, Pair 6 / genetics*
  • Diagnosis, Differential
  • Female
  • Gene Deletion*
  • Helix-Loop-Helix Motifs / genetics
  • Humans
  • Male
  • Phenotype
  • Prader-Willi Syndrome / diagnosis
  • Prader-Willi Syndrome / genetics*
  • Repressor Proteins / genetics*

Substances

  • Basic Helix-Loop-Helix Transcription Factors
  • Repressor Proteins
  • SIM1 protein, human